@article{412d3e175dab459eb71c7ca25bcbaaee,
title = "Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31",
abstract = "The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in the organ of Corti of the inner ear indicates that the whirler gene encodes a protein involved in the elongation and maintenance of stereocilia in both inner hair cells (IHCs) and outer hair cells (OHCs). BAC-mediated transgene correction of the mouse phenotype and mutation analysis identified the causative gene as encoding a novel PDZ protein called whirlin. The gene encoding whirlin also underlies the human autosomal recessive deafness locus DFNB31. In the mouse cochlea, whirlin is expressed in the sensory IHC and OHC stereocilia. Our findings suggest that this novel PDZ domain-containing molecule acts as an organizer of submembranous molecular complexes that control the coordinated actin polymerization and membrane growth of stereocilia.",
author = "Philomena Mburu and Mirna Mustapha and Anabel Varela and Dominique Weil and Aziz El-Amraoui and Holme, {Ralph H.} and Andreas Rump and Hardisty, {Rachel E.} and St{\'e}phane Blanchard and Coimbra, {Roney S.} and Isabelle Perfettini and Nick Parkinson and Mallon, {Ann Marie} and Pete Glenister and Rogers, {Mike J.} and Paige, {Adam J.} and Lee Moir and Jo Clay and Andre Rosenthal and Liu, {Xue Zhong} and Gonzalo Blanco and Steel, {Karen P.} and Christine Petit and Brown, {Steve D.M.}",
note = "Funding Information: We thank J. Hardelin, J. Levilliers and S. Cure for critical reading of the manuscript. The confocal microscope was purchased with a donation from Marcel and Liliane Pollack. This work was supported by the Medical Research Council, Defeating Deafness, a grant from the European Community, the Foundation Srittmatter (Retina France) and the US National Institutes of Health.",
year = "2003",
month = aug,
day = "1",
doi = "10.1038/ng1208",
language = "English (US)",
volume = "34",
pages = "421--428",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "4",
}